Severe mental retardation, epilepsy, anal anomalies, and distal phalangeal hypoplasia in siblings

被引：14

作者：

Marcelis, Carlo L. ^{[1
]}

Rieu, Paul ^{[1
]}

Beemer, Frits ^{[1
]}

Brunner, Han G. ^{[1
]}

机构：

[1] Radboud Univ Nijmegen Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands

来源：

CLINICAL DYSMORPHOLOGY | 2007年 / 16卷 / 02期

关键词：

absent nails; anal atresia; Coffin-Siris syndrome; epilepsy; mental retardation; COFFIN-SIRIS-SYNDROME; DEFICIENCY;

D O I：

10.1097/MCD.0b013e3280147130

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report two sisters born to consanguineous parents with an identical syndrome consisting of severe mental retardation and epilepsy, hypoplastic terminal phalanges, and anteriorly displaced anus. Further metabolic and genetic testing failed to detect the etiology. A whole genome linkage scan showed homozygosity for a 28-Mb region on chromosome 1 p, and a 65-Mb region spanning most of chromosome 14. These results are consistent with an autosomal recessive condition that is similar to, but likely distinct from, Coffin-Siris syndrome.

引用

页码：73 / 76

页数：4

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